What is Edwards Syndrome?

Edwards Syndrome, which is commonly known by the name of Trisomy 18, is a rare genetic disorder in which the affected child tends to have extra 18th chromosome. Edwards Syndrome is so severe that in majority of the conditions the child succumbs to this condition before birth.

Some children who do survive tend to have a myriad of complications after birth and their quality of life is extremely poor as a result of Edwards Syndrome and they are not able to survive for more than a year or two.

Edwards Syndrome is actually a cluster of various congenital abnormalities with the heart, the brain, kidneys and the stomach which arise as a result of this extra chromosome 18 resulting in Edwards Syndrome.

Edwards Syndrome tends to affect females more than males. It has been noted in various studies that a female above the age of 30 getting pregnant is more than likely to give birth to a child with Edwards Syndrome.

What are the Causes of Edwards Syndrome?

In every human being, there are 46 chromosomes which occur in pair meaning that 23 pairs of chromosomes in every individual. These chromosomes are inherited from the parents.

Anatomically speaking, the ovum cells in the female have 23 pairs of chromosomes and the sperm cells in males have 23 pairs of chromosomes. The pair of chromosomes in females is referred to as XX and in males is referred to as XY. These chromosomes are numbered from 1-22. The extra pair of chromosome that arises from chromosome 18 is found to be the main reason behind development of Trisomy 18 or Edwards Syndrome.

Children affected with Edwards Syndrome have 3 copies of chromosome 18 instead of the normal 2 which is what is responsible for the severe symptoms that occur as a result of Edwards Syndrome.

What are the Symptoms of Edwards Syndrome?

In majority of the cases as stated above, the child with Edwards Syndrome succumbs to the disease condition before birth itself. In some cases where a child with Edwards Syndrome is delivered such children are abnormally weak and fragile. They are abnormally underweight and have an extremely small head.

There may also be malformation of the ears and they may be low set. There is also underdevelopment of the mouth and the jaw. Cleft palate is also something that is commonly seen in children with Edwards Syndrome. Children with Edwards Syndrome also tend to have clubbed feet and webbed toes.

There are also abnormalities in the other parts of the body like the lungs where the blood vessels may be underdeveloped or malformed. Children with Edwards Syndrome may also have congenital heart defects like atrial septal defect or ventricular septal defect which are quite life threatening conditions.

Affected children may also have abnormalities in the kidneys and urinary systems. Males may have undescended testicles as a result of Edwards Syndrome.

How is Edwards Syndrome Diagnosed?

A diagnosis of Edwards Syndrome may be done by looking at the physical features present at the time of the birth of the child. Additionally, radiological studies may show the characteristic musculoskeletal abnormalities seen with Edwards Syndrome.

Once Edwards Syndrome is suspected then an extensive examination of the child's chromosomes can be done which will clearly show the trisomy 18 abnormality confirming the diagnosis of Edwards Syndrome. Additionally, a prenatal ultrasound or an amniocentesis before the delivery of the child may also help confirm a diagnosis of Edwards Syndrome.

How is Edwards Syndrome Treated?

As of now, there is no cure for Edwards Syndrome. The treatment is basically symptomatic and supportive. The treatment for such children is highly complex.

As the prognosis of such children is extremely poor and may extend for a maximum of one year; surgery, although an option, is not carried out as the risks far outweigh the benefits of a surgical procedure.

Studies suggest that only 10% of children survive beyond one year with Edwards Syndrome. The overall development of the child is affected due to nervous system abnormalities and the child may not be able to complete the expected milestones as a result of this.

Due to abnormalities in the digestive system such children are fed with special formula foods and laxatives as they tend to have chronic constipation due to Edwards Syndrome.

Some abnormalities for which treatments can be given are seizures, club foot, webbed toes, pneumonia, infections, hypertension, hydrocephalus, and certain heart defects that can be seen in children with Edwards Syndrome.

What is the Prognosis & Life Expectancy of Child with Edwards Syndrome?

As stated, the prognosis for Edwards Syndrome is extremely poor and the maximum life expectancy is not more than a year at the most, although in majority of the cases the child succumbs to the disease condition within a matter of a couple of months.

Some of the children who do survive beyond one year end up having severe physical and mental disabilities that their quality of life is severely compromised and they tend to be heavily dependent on others for their daily needs as a result of Edwards Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: October 4, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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